GBB4_HUMAN
Source:
PM23856902
BSc_CH
Marked as 'Non-membrane protein'
Confidence:
medium (present in either hRBCD or BSc_CH or PM22954596)
Search PubMed for
(RBC AND this entry)
Gene names:
GNB4
Protein names and data:
GBB4_HUMAN
, Guanine nucleotide-binding protein subunit beta-4
, Transducin beta chain 4
Lenght: 340 a.a.
Mass: 37567 Da
fasta formatted sequence
Function:
Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein- effector interaction.
Disease:
( OMIM:
610863
615185
)
Charcot-Marie-Tooth disease, dominant, intermediate type, F (CMTDIF) [MIM:615185]: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. CMTDIF is characterized by onset around adolescence of slowly progressive distal muscle atrophy and weakness affecting the upper and lower limbs and resulting in steppage gait. There is distal sensory impairment with decreased reflexes. Nerve conduction velocities are variable, ranging from the demyelinating to the axonal range. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue specificity:
Strongly expressed in lung and placenta, whereas it is weakly expressed in brain and heart. Abundantly expressed in the axons and Schwann cells of peripheral nerves.
Genetic variants
53 - 53
G -> D (in CMTDIF; the mutant protein has impaired bradykinin-induced G-protein- coupled receptor intracellular signaling compared to the wild-type protein). VAR_069908
89 - 89
K -> E (in CMTDIF; the mutant protein has impaired bradykinin-induced G-protein- coupled receptor intracellular signaling compared to the wild-type protein). VAR_069909
Database cross-references
UniProt:
Q9HAV0
Ensembl:
ENST00000232564
Ensembl:
ENST00000468623
MIM:
610863
MIM:
615185
neXtProt:
NX_Q9HAV0
Antibodypedia:
Q9HAV0
(may not find the protein thus also not any antibody)
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